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Case report
Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation
  1. Nida Mirza,
  2. Ravi Bharadwaj,
  3. Smita Malhotra and
  4. Anupam Sibal
  1. Pediatric Gasteroenterology, Indraprastha Apollo Hospital, New Delhi, India
  1. Correspondence to Dr Nida Mirza; nydamirza.1{at}gmail.com

Abstract

A 15-year-old boy who had a history of on and off pruritus and jaundice since many years found to have a novel mutation in TJP2 gene. On examination, he had clubbing, splenomegaly, grade 3 oesophageal varices and short stature. Investigation revealed direct hyperbirubinemia with elevated liver enzymes with normal gamma-glutamyl transferase (GGT). Antinuclear antibody (ANA), smooth muscle antibody (SMA) anti-liver kidney microsomal (anti-LKM) and viral markers for hepatitis were negative. However, IgG was elevated and anti-smooth muscle antibody (ASMA) was weekly positive (1:20). He was also given a trial of steroid and azathioprine for 1 year on the basis of liver biopsy findings, raised IgG and positive ASMA but finding no improvement stopped. Genetic testing by next-generation sequencing found a novel compound heterozygous missense variation in exon 17 of the TJP2 gene confirming progressive familial intrahepatic cholestasis type 4 as the aetiology of cholestatic liver disease.

  • bilirubin disorders
  • liver disease
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Footnotes

  • Contributors NM: collected the data, written and designed the manuscript. RB: analysed the data and assisted in designing of the manuscript. SM: provided critical revision of the manuscript. AS: provided final approval of the version to publish.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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